Literature summary for 2.3.1.39 extracted from

Li, H.; Yuan, S.; Minegishi, Y.; Suga, A.; Yoshitake, K.; Sheng, X.; Ye, J.; Smith, S.; Bunkoczi, G.; Yamamoto, M.; Iwata, T.
Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy (2020), Hum. Mol. Genet., 29, 444-458 .

Search for more literature for 2.3.1.39

Cloned(Commentary)

Cloned (Comment)	Organism
expressed in HEK-239T, COS7 and Hela cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
L81R	the mutation is responsible for autosomal recessive optic neuropathy	Homo sapiens
L81R/R212W	the mutation is responsible for autosomal recessive optic neuropathy	Homo sapiens
R212W	the mutation is responsible for autosomal recessive optic neuropathy	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
mitochondrion	-	Homo sapiens	5739	-

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
malonyl-CoA + an [acyl-carrier protein]	Homo sapiens	-	CoA + a malonyl-[acyl-carrier protein]	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
retinal ganglion cell	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
malonyl-CoA + an [acyl-carrier protein]	-	Homo sapiens	CoA + a malonyl-[acyl-carrier protein]	-	?

Synonyms

Synonyms	Comment	Organism
malonyl-CoA-acyl carrier protein transacylase	-	Homo sapiens
MCAT	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	disease variants of the enzyme lead to a structurally unstable protein with significantly reduced intracellular expression	Homo sapiens
physiological function	the enzyme plays an essential role in mitochondrial function and maintenance of retinal ganglion cell axons	Homo sapiens

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Release 2023.1 (January 2023)